Entrez Gene

Basic Information
Gene ID	79813
Name	EHMT1
Synonymous	euchromatic histone-lysine N-methyltransferase 1;EHMT1;euchromatic histone-lysine N-methyltransferase 1
Definition	G9a-like protein 1\|H3-K9-HMTase 5\|histone H3-K9 methyltransferase 5\|histone-lysine N-methyltransferase EHMT1\|histone-lysine N-methyltransferase, H3 lysine-9 specific 5\|lysine N-methyltransferase 1D
Position	9q34.3
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.839C>T; p.T280M; 9:137743479-137743479	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.182C>T; p.A61V; 9:137716815-137716815	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1620C>T; p.L540L; 9:137775174-137775174	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1848C>T; p.T616T; 9:137776767-137776767	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.553G>A; p.A185T; 9:137728352-137728352	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3095T>C; p.V1032A; 9:137814438-137814438	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.264C>G; p.V88V; 9:137716897-137716897	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1980C>T; p.H660H; 9:137777936-137777936	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1980C>T; p.H660H; 9:137777936-137777936	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.2083G>A; p.A695T; 9:137778039-137778039	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2773G>A; p.V925I; 9:137811614-137811614	central_nervous_system; brain	glioma	Substitution - Missense
c.2157G>A; p.E719E; 9:137779692-137779692	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.3616C>T; p.Q1206*; 9:137834517-137834517	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2188_2189GG>AA; p.G730K; 9:137782296-137782297	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2725G>A; p.D909N; 9:137811566-137811566	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.2052A>T; p.P684P; 9:137778008-137778008	pancreas	carcinoma	Substitution - coding silent
c.176G>A; p.R59Q; 9:137716809-137716809	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2297C>T; p.A766V; 9:137790855-137790855	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2015G>A; p.G672E; 9:137777971-137777971	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2992G>A; p.V998M; 9:137813435-137813435	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2992G>A; p.V998M; 9:137813435-137813435	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2015G>A; p.G672E; 9:137777971-137777971	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1939C>G; p.P647A; 9:137777895-137777895	pancreas	NS	Substitution - Missense
c.1059G>A; p.E353E; 9:137744072-137744072	skin	malignant_melanoma	Substitution - coding silent
c.1722C>T; p.P574P; 9:137776641-137776641	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2299A>G; p.N767D; 9:137790857-137790857	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.818C>A; p.T273N; 9:137743458-137743458	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3149G>A; p.R1050H; 9:137814492-137814492	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3149G>A; p.R1050H; 9:137814492-137814492	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3149G>A; p.R1050H; 9:137814492-137814492	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2645C>T; p.A882V; 9:137811486-137811486	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.1858G>A; p.V620M; 9:137776777-137776777	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3281G>A; p.R1094K; 9:137816062-137816062	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.312G>A; p.Q104Q; 9:137716945-137716945	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3611G>C; p.G1204A; 9:137834512-137834512	breast	carcinoma	Substitution - Missense
c.2398C>A; p.L800M; 9:137790956-137790956	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3283G>A; p.A1095T; 9:137817440-137817440	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3595C>T; p.R1199C; 9:137834496-137834496	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.632C>T; p.S211F; 9:137728431-137728431	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.801G>T; p.L267L; 9:137743441-137743441	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.244G>A; p.D82N; 9:137716877-137716877	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2390C>T; p.A797V; 9:137790948-137790948	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.568C>T; p.P190S; 9:137728367-137728367	skin	malignant_melanoma	Substitution - Missense
c.3417A>C; p.E1139D; 9:137818108-137818108	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.116C>A; p.A39E; 9:137716749-137716749	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1930G>A; p.A644T; 9:137777886-137777886	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2988C>T; p.N996N; 9:137813431-137813431	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.538G>A; p.V180I; 9:137717171-137717171	skin	malignant_melanoma	Substitution - Missense
c.2869G>A; p.A957T; 9:137813100-137813100	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2032C>T; p.P678S; 9:137777988-137777988	skin	malignant_melanoma	Substitution - Missense
c.94G>A; p.A32T; 9:137716727-137716727	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3741C>T; p.A1247A; 9:137834890-137834890	skin	malignant_melanoma	Substitution - coding silent
c.868C>G; p.H290D; 9:137743508-137743508	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2412+9C>T; p.?; 9:137790979-137790979	prostate	carcinoma	Unknown
c.3501C>T; p.F1167F; 9:137834402-137834402	skin	malignant_melanoma	Substitution - coding silent
c.1689C>G; p.F563L; 9:137775243-137775243	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1074G>T; p.Q358H; 9:137744087-137744087	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2921C>T; p.P974L; 9:137813152-137813152	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3675C>T; p.C1225C; 9:137834824-137834824	breast	carcinoma	Substitution - coding silent
c.1829C>T; p.T610M; 9:137776748-137776748	liver	carcinoma	Substitution - Missense
c.886A>G; p.K296E; 9:137743526-137743526	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1403C>T; p.A468V; 9:137758006-137758006	oesophagus; upper_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2246C>T; p.A749V; 9:137782354-137782354	stomach	adenocarcinoma	Substitution - Missense
c.2541C>T; p.I847I; 9:137800906-137800906	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.147delC; p.Q51fs*7; 9:137716780-137716780	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.745G>T; p.V249F; 9:137743385-137743385	liver	carcinoma	Substitution - Missense
c.745G>T; p.V249F; 9:137743385-137743385	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.745G>T; p.V249F; 9:137743385-137743385	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.541G>A; p.V181M; 9:137717174-137717174	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.975C>T; p.L325L; 9:137743988-137743988	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1642C>T; p.R548W; 9:137775196-137775196	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3231G>A; p.A1077A; 9:137816012-137816012	breast	carcinoma	Substitution - coding silent
c.1777G>A; p.A593T; 9:137776696-137776696	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3575G>A; p.R1192Q; 9:137834476-137834476	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2656G>A; p.G886S; 9:137811497-137811497	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.3231G>A; p.A1077A; 9:137816012-137816012	breast	carcinoma	Substitution - coding silent
c.2656G>A; p.G886S; 9:137811497-137811497	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1617G>A; p.P539P; 9:137775171-137775171	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1617G>A; p.P539P; 9:137775171-137775171	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1182A>C; p.K394N; 9:137754197-137754197	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1617G>A; p.P539P; 9:137775171-137775171	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2455G>A; p.G819S; 9:137798855-137798855	skin	malignant_melanoma	Substitution - Missense
c.2309C>T; p.T770I; 9:137790867-137790867	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.951G>A; p.S317S; 9:137743964-137743964	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3677G>T; p.R1226L; 9:137834826-137834826	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1768G>A; p.V590I; 9:137776687-137776687	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2966G>A; p.R989H; 9:137813409-137813409	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3265G>A; p.V1089I; 9:137816046-137816046	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1741C>T; p.R581C; 9:137776660-137776660	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.531G>A; p.P177P; 9:137717164-137717164	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3265G>A; p.V1089I; 9:137816046-137816046	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2114G>A; p.R705H; 9:137779649-137779649	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3043G>A; p.V1015M; 9:137813486-137813486	breast	carcinoma	Substitution - Missense
c.3700C>T; p.H1234Y; 9:137834849-137834849	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2648C>T; p.A883V; 9:137811489-137811489	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.755C>T; p.A252V; 9:137743395-137743395	breast	carcinoma	Substitution - Missense
c.2707G>A; p.A903T; 9:137811548-137811548	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.950C>T; p.S317L; 9:137743963-137743963	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1378G>A; p.V460I; 9:137757981-137757981	skin; trunk	malignant_melanoma	Substitution - Missense
c.1012G>A; p.A338T; 9:137744025-137744025	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1012G>A; p.A338T; 9:137744025-137744025	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.791C>T; p.T264I; 9:137743431-137743431	skin	malignant_melanoma	Substitution - Missense
c.2034C>T; p.P678P; 9:137777990-137777990	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3113C>G; p.S1038C; 9:137814456-137814456	skin	malignant_melanoma	Substitution - Missense
c.784A>G; p.M262V; 9:137743424-137743424	breast	carcinoma	Substitution - Missense
c.676C>A; p.H226N; 9:137728475-137728475	breast	carcinoma	Substitution - Missense
c.3450C>T; p.D1150D; 9:137834351-137834351	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3692A>G; p.K1231R; 9:137834841-137834841	breast	carcinoma	Substitution - Missense
c.3450C>T; p.D1150D; 9:137834351-137834351	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2102C>T; p.P701L; 9:137779637-137779637	prostate	carcinoma	Substitution - Missense
c.3484G>T; p.G1162W; 9:137834385-137834385	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3425A>T; p.Y1142F; 9:137818116-137818116	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.3558G>T; p.Q1186H; 9:137834459-137834459	prostate	carcinoma	Substitution - Missense
c.3402C>T; p.A1134A; 9:137818093-137818093	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - coding silent
c.3402C>T; p.A1134A; 9:137818093-137818093	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3402C>T; p.A1134A; 9:137818093-137818093	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma; medullomyoblastoma	Substitution - coding silent
c.988G>T; p.G330C; 9:137744001-137744001	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1138G>A; p.G380S; 9:137752391-137752391	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2759G>A; p.R920H; 9:137811600-137811600	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1161G>A; p.S387S; 9:137754176-137754176	breast	carcinoma	Substitution - coding silent
c.1161G>A; p.S387S; 9:137754176-137754176	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2296G>A; p.A766T; 9:137790854-137790854	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2710G>T; p.V904L; 9:137811551-137811551	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3003G>T; p.E1001D; 9:137813446-137813446	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2025G>A; p.R675R; 9:137777981-137777981	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3332C>T; p.S1111F; 9:137817489-137817489	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1782C>T; p.S594S; 9:137776701-137776701	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2421G>T; p.E807D; 9:137798821-137798821	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.369C>A; p.T123T; 9:137717002-137717002	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2094G>A; p.S698S; 9:137778050-137778050	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1200A>C; p.G400G; 9:137754215-137754215	kidney	other; neoplasm	Substitution - coding silent
c.1348G>A; p.E450K; 9:137757951-137757951	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.112G>A; p.A38T; 9:137716745-137716745	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.345G>T; p.S115S; 9:137716978-137716978	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3045G>C; p.V1015V; 9:137813488-137813488	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.984C>T; p.D328D; 9:137743997-137743997	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2745C>T; p.A915A; 9:137811586-137811586	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1919C>T; p.T640M; 9:137776838-137776838	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1919C>T; p.T640M; 9:137776838-137776838	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1919C>T; p.T640M; 9:137776838-137776838	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.285C>G; p.I95M; 9:137716918-137716918	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1854G>A; p.S618S; 9:137776773-137776773	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.114T>C; p.A38A; 9:137716747-137716747	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1953C>T; p.D651D; 9:137777909-137777909	breast	carcinoma	Substitution - coding silent
c.1643G>A; p.R548Q; 9:137775197-137775197	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1077+2T>C; p.?; 9:137744092-137744092	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.20C>T; p.S7L; 9:137716653-137716653	skin	malignant_melanoma	Substitution - Missense
c.1643G>A; p.R548Q; 9:137775197-137775197	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1909G>A; p.D637N; 9:137776828-137776828	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.57G>A; p.A19A; 9:137716690-137716690	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3698G>A; p.R1233Q; 9:137834847-137834847	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1144G>A; p.E382K; 9:137752397-137752397	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.485C>A; p.A162D; 9:137717118-137717118	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1144G>A; p.E382K; 9:137752397-137752397	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2004G>A; p.T668T; 9:137777960-137777960	breast	carcinoma	Substitution - coding silent
c.1765C>A; p.R589R; 9:137776684-137776684	bone; extraskeletal	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.3756G>A; p.E1252E; 9:137834905-137834905	skin	malignant_melanoma	Substitution - coding silent
c.1214C>T; p.P405L; 9:137754229-137754229	skin	malignant_melanoma	Substitution - Missense
c.142G>A; p.V48I; 9:137716775-137716775	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1320G>A; p.T440T; 9:137757923-137757923	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.398C>T; p.T133I; 9:137717031-137717031	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.2035G>A; p.G679S; 9:137777991-137777991	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1083C>T; p.D361D; 9:137752336-137752336	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1649G>A; p.R550H; 9:137775203-137775203	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1649G>A; p.R550H; 9:137775203-137775203	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.3409C>T; p.R1137*; 9:137818100-137818100	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.3474G>A; p.A1158A; 9:137834375-137834375	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1557G>T; p.L519F; 9:137775111-137775111	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2697C>T; p.C899C; 9:137811538-137811538	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2291C>T; p.A764V; 9:137790849-137790849	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2619+1G>A; p.?; 9:137800985-137800985	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.565G>T; p.D189Y; 9:137728364-137728364	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.908C>T; p.A303V; 9:137743921-137743921	skin	malignant_melanoma	Substitution - Missense
c.1700G>T; p.G567V; 9:137776619-137776619	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.38G>C; p.G13A; 9:137716671-137716671	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3439G>A; p.D1147N; 9:137818130-137818130	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.351T>C; p.P117P; 9:137716984-137716984	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3603C>T; p.I1201I; 9:137834504-137834504	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3743A>C; p.Q1248P; 9:137834892-137834892	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.351T>C; p.P117P; 9:137716984-137716984	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.276C>T; p.N92N; 9:137716909-137716909	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1067G>A; p.R356H; 9:137744080-137744080	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2182+1G>A; p.?; 9:137779718-137779718	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Unknown
c.2237T>G; p.L746R; 9:137782345-137782345	breast	carcinoma	Substitution - Missense
c.2416G>A; p.A806T; 9:137798816-137798816	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3529G>C; p.V1177L; 9:137834430-137834430	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.345G>A; p.S115S; 9:137716978-137716978	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.345G>A; p.S115S; 9:137716978-137716978	bone; pelvis	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.2333C>T; p.P778L; 9:137790891-137790891	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3325G>A; p.V1109M; 9:137817482-137817482	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.230A>T; p.H77L; 9:137716863-137716863	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1027G>A; p.D343N; 9:137744040-137744040	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1213C>G; p.P405A; 9:137754228-137754228	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.35C>T; p.A12V; 9:137716668-137716668	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.3068G>A; p.R1023K; 9:137813511-137813511	urinary_tract; bladder	carcinoma	Substitution - Missense
c.915C>T; p.S305S; 9:137743928-137743928	skin	malignant_melanoma	Substitution - coding silent
c.1284G>T; p.E428D; 9:137757887-137757887	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2913G>T; p.R971S; 9:137813144-137813144	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.181G>A; p.A61T; 9:137716814-137716814	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.731-2delA; p.?; 9:137743369-137743369	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.2245G>A; p.A749T; 9:137782353-137782353	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.761T>C; p.V254A; 9:137743401-137743401	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3425A>G; p.Y1142C; 9:137818116-137818116	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1A>G; p.M1V; 9:137716634-137716634	central_nervous_system; brain	glioma	Substitution - Missense
c.3641G>T; p.R1214L; 9:137834790-137834790	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3669C>T; p.F1223F; 9:137834818-137834818	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.3560A>T; p.D1187V; 9:137834461-137834461	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.3476G>T; p.R1159L; 9:137834377-137834377	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2999G>T; p.S1000I; 9:137813442-137813442	breast	carcinoma	Substitution - Missense
c.2182+7G>T; p.?; 9:137779724-137779724	liver	carcinoma	Unknown
c.1920G>A; p.T640T; 9:137776839-137776839	liver	carcinoma	Substitution - coding silent
c.1920G>A; p.T640T; 9:137776839-137776839	liver	carcinoma	Substitution - coding silent
c.1796G>A; p.C599Y; 9:137776715-137776715	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.996T>C; p.G332G; 9:137744009-137744009	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.812A>G; p.K271R; 9:137743452-137743452	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3368A>T; p.E1123V; 9:137817525-137817525	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1908C>T; p.A636A; 9:137776827-137776827	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.3114C>T; p.S1038S; 9:137814457-137814457	skin	malignant_melanoma	Substitution - coding silent
c.2293G>T; p.G765C; 9:137790851-137790851	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2753A>G; p.E918G; 9:137811594-137811594	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3405C>T; p.D1135D; 9:137818096-137818096	bone; fibula	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.581G>A; p.R194Q; 9:137728380-137728380	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2194G>T; p.D732Y; 9:137782302-137782302	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3737C>T; p.A1246V; 9:137834886-137834886	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3737C>T; p.A1246V; 9:137834886-137834886	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2761T>C; p.Y921H; 9:137811602-137811602	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.120G>A; p.K40K; 9:137716753-137716753	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3433G>T; p.D1145Y; 9:137818124-137818124	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3540C>T; p.R1180R; 9:137834441-137834441	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1014G>A; p.A338A; 9:137744027-137744027	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1636G>A; p.D546N; 9:137775190-137775190	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3042C>T; p.C1014C; 9:137813485-137813485	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1696G>A; p.A566T; 9:137775250-137775250	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3103G>A; p.D1035N; 9:137814446-137814446	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.36A>G; p.A12A; 9:137716669-137716669	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1441G>C; p.D481H; 9:137762707-137762707	urinary_tract; bladder	carcinoma	Substitution - Missense
c.241G>A; p.D81N; 9:137716874-137716874	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.199G>C; p.E67Q; 9:137716832-137716832	oesophagus	carcinoma	Substitution - Missense
c.3363C>T; p.V1121V; 9:137817520-137817520	skin	malignant_melanoma	Substitution - coding silent
c.3489C>T; p.N1163N; 9:137834390-137834390	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1071C>A; p.A357A; 9:137744084-137744084	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.3736G>A; p.A1246T; 9:137834885-137834885	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense

COSMIC somatic mutation [Top]